Microphthalmia, and Depressed nasal ridge

Diseases related with Microphthalmia and Depressed nasal ridge

In the following list you will find some of the most common rare diseases related to Microphthalmia and Depressed nasal ridge that can help you solving undiagnosed cases.

Top matches:

Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

High match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Other less relevant matches:

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.

PALLISTER-HALL SYNDROME Is also known as hypothalamic hamartoblastoma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PALLISTER-HALL SYNDROME

High match FRYNS SYNDROME

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Top 5 symptoms//phenotypes associated to Microphthalmia and Depressed nasal ridge

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Ambiguous genitalia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microphthalmia and Depressed nasal ridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Short nose Cleft lip Intellectual disability Anophthalmia Dandy-Walker malformation Low-set, posteriorly rotated ears Ventricular septal defect Cleft upper lip Abnormality of the skeletal system Abnormality of cardiovascular system morphology Cryptorchidism Cerebellar hypoplasia Cataract Hypertelorism Global developmental delay Low-set ears Short stature Rocker bottom foot Multicystic kidney dysplasia Sloping forehead Retrognathia Polyhydramnios Atrial septal defect Clinodactyly Ventriculomegaly Flexion contracture Abnormal facial shape Duodenal atresia Holoprosencephaly Choanal atresia Renal agenesis Seizures Scoliosis Anteverted nares Downslanted palpebral fissures Agenesis of corpus callosum Postaxial hand polydactyly Short neck Microretrognathia Macrocephaly Wide mouth Coarctation of aorta Intellectual disability, mild Renal dysplasia Hydrocephalus

Rare Symptoms - Less than 30% cases

Clinodactyly of the 5th finger Median cleft lip High palate Scrotal hypoplasia Hypothalamic hamartoma Panhypopituitarism Large for gestational age Oligodactyly Precocious puberty Tented upper lip vermilion Arrhinencephaly Tetralogy of Fallot Single transverse palmar crease Growth hormone deficiency Premature birth Convex nasal ridge Ectodermal dysplasia Large beaked nose Anal atresia Hypospadias Edema Pulmonary hypoplasia Abnormality of the eye Blepharophimosis Hypothyroidism Corneal opacity Wide nose Pterygium Joint contracture of the hand Limb undergrowth Bifid uvula Finger clinodactyly Micropenis Toe syndactyly Muscular dystrophy Abnormal cardiac septum morphology Camptodactyly Atrioventricular canal defect Abnormal lung lobation Abnormal aortic morphology Deeply set eye Patent ductus arteriosus Generalized hypotonia Hearing impairment Ureteral duplication Rhizomelia Frontal bossing Narrow chest Short philtrum Talipes Asplenia Broad forehead Encephalocele Talipes equinovarus Oligohydramnios Aplasia/Hypoplasia of the corpus callosum Abnormality of the pinna Thin ribs Recurrent upper and lower respiratory tract infections Paroxysmal bursts of laughter Central adrenal insufficiency Aplasia/hypoplasia of the uterus Mesoaxial polydactyly Abnormal basal ganglia MRI signal intensity Hydrometrocolpos Laryngeal cleft Abnormal prolactin level Broad toe Radial head subluxation Osteochondroma Severe short stature 3-4 finger cutaneous syndactyly Bifid epiglottis Long philtrum Hydronephrosis Thin upper lip vermilion Coarse facial features Gastroesophageal reflux Cerebral cortical atrophy Myoclonus Areflexia Hernia Dilatation Blindness Midline facial capillary hemangioma Respiratory distress Wide nasal bridge Gelastic seizures Polydactyly affecting the 4th finger Polydactyly affecting the 3rd finger Auricular tag Aplasia/Hypoplasia of the vagina Supernumerary metacarpal bones Bilateral renal agenesis Bilateral postaxial polydactyly Facial grimacing Accessory oral frenulum Microtia Atresia of the external auditory canal Abdominal distention Hemivertebrae Broad thumb Decreased testicular size Nail dysplasia Hip dislocation Umbilical hernia Unilateral renal agenesis Skeletal dysplasia Polycystic kidney dysplasia Inguinal hernia Pericardial effusion Respiratory insufficiency Brachydactyly Ptosis Trigonocephaly Overlapping toe Thyroid hypoplasia Short 4th metacarpal Secondary growth hormone deficiency Severe global developmental delay Abnormal corpus callosum morphology Gonadotropin deficiency Adrenocorticotropic hormone deficiency Rib fusion Pituitary hypothyroidism Radial bowing Ectopic kidney Microglossia Adrenal hypoplasia Scaphocephaly Distal arthrogryposis Primary adrenal insufficiency Hypopituitarism Natal tooth Abnormality of the nervous system Renal cyst Short distal phalanx of finger Chylothorax Abnormality of the diaphragm Prominent fingertip pads Gastroparesis Meckel diverticulum Shortening of all distal phalanges of the fingers Gastroschisis Aplasia cutis congenita of scalp Absent nipple Urethral stricture Interrupted aortic arch Bifid nose Cystic renal dysplasia Aplasia/Hypoplasia of the nipples Ovarian cyst Abnormality of the helix Bicornuate uterus Broad ribs Bilateral choanal atresia Broad clavicles Ectopic anus Polydactyly Interphalangeal joint contracture of finger Congenital cataract Camptodactyly of finger Sparse hair Kyphoscoliosis Posterior synechiae of the anterior chamber Iris atrophy Ectopia lentis Dental malocclusion Abnormal aortic arch morphology Prominent nose Visual loss Hypoplasia of the optic tract Ectopic pancreatic tissue Absent left hemidiaphragm Postaxial oligodactyly Hypoplasia of olfactory tract Facial hirsutism Hypoplastic fingernail Abnormality of finger Postaxial polydactyly Omphalocele Narrow palpebral fissure Opacification of the corneal stroma Short thumb Amblyopia Abnormality of the face Aganglionic megacolon Heterotopia Small nail Abnormality of the genitourinary system Intellectual disability, profound Congenital diaphragmatic hernia Wide intermamillary distance Intestinal malrotation Vesicoureteral reflux Gliosis Premature chromatid separation Abnormality of the kidney Abnormality of the outer ear Proximal placement of thumb Retinal dysplasia Shawl scrotum Bilateral cleft lip and palate Polysplenia Truncus arteriosus Bilateral cleft lip Thickened nuchal skin fold Broad neck Overweight Esophageal atresia Atrophy/Degeneration affecting the brainstem Bifid scrotum Hypoplastic nipples Cystic hygroma Partial agenesis of the corpus callosum Non-midline cleft lip Hypoplasia of the uterus Thoracic hypoplasia Hydroureter Anonychia Vaginal neoplasm Rhabdomyosarcoma Epidermoid cyst Full cheeks Optic atrophy Polymicrogyria Ichthyosis Micromelia Arthrogryposis multiplex congenita Microcornea Finger syndactyly Bowing of the long bones Everted lower lip vermilion Osteopenia Macrotia Situs inversus totalis Proptosis Hypogonadism Osteoporosis Preaxial hand polydactyly Syndactyly Thick vermilion border Muscle cramps Anencephaly Lissencephaly Metaphyseal cupping of metacarpals Radial deviation of finger Large hands Ectropion Rickets Patent foramen ovale Distal shortening of limbs Spina bifida Hypoplasia of the calcaneus Abnormality of the calcaneus Abnormality of the hair Pachygyria Thick lower lip vermilion Decreased fetal movement Metaphyseal cupping of proximal phalanges Cerebral calcification Abnormality of the skin Kyphosis Male pseudohermaphroditism Abnormality of neuronal migration Hypoplasia of penis Aplasia/Hypoplasia of the iris Abnormal chorioretinal morphology Anosmia EMG: myopathic abnormalities Hemangioma Urethral atresia Aplasia/Hypoplasia of the tongue Hypotelorism Hamartoma Pancreatic fibrosis Specific learning disability True hermaphroditism Lobar holoprosencephaly Cystic liver disease Strabismus Asthma Iris coloboma Narrow nasal bridge Accessory spleen Postaxial foot polydactyly Torus palatinus Skeletal muscle atrophy Sclerocornea Furrowed tongue Midnasal stenosis Pyriform aperture stenosis Prominent median palatal raphe Single naris Congenital hepatic fibrosis Maternal diabetes Semilobar holoprosencephaly Cyclopia Abnormality of the nasopharynx Single median maxillary incisor Nasal obstruction Hyposmia Abnormality of chromosome segregation Pancreatic cysts Bilateral cryptorchidism Opisthotonus Increased nuchal translucency Abnormality of skin pigmentation Cafe-au-lait spot Short palpebral fissure Hyperkeratosis Triangular face Ascites Bulbous nose Long face Dolichocephaly Equinovarus deformity Small for gestational age Platyspondyly Short palm Craniosynostosis Short foot Apnea High forehead Glaucoma Osteolysis Aortic regurgitation Abnormal heart morphology Acute lymphoblastic leukemia Occipital encephalocele Stomach cancer Coloboma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Abnormality of the skull Enlarged kidney Sleep apnea Abnormality of immune system physiology Multiple cafe-au-lait spots Hyperechogenic kidneys Colon cancer Aplasia/Hypoplasia of the cerebellum Nephroblastoma Myelodysplasia Abnormality of vision Delayed skeletal maturation Hypoplastic iliac wing Prominent occiput Broad foot Hydranencephaly Abnormality of nervous system morphology Generalized edema Lack of skin elasticity Abnormal cortical gyration Trismus Abnormal eyelid morphology Absent eyelashes Abnormality of the philtrum Abnormality of the mouth Severe intrauterine growth retardation Abnormal eyelash morphology Submucous cleft hard palate Osteomalacia Transposition of the great arteries Absent septum pellucidum External genital hypoplasia Calcaneovalgus deformity Abnormal nasolacrimal system morphology Decreased skull ossification Yellow subcutaneous tissue covered by thin, scaly skin Epicanthus Depressed nasal bridge Cognitive impairment Muscular hypotonia Neoplasm 11 pairs of ribs Metaphyseal chondrodysplasia Severe platyspondyly Type III lissencephaly Abnormality of the cerebellar vermis Abnormality of limbs Ablepharon Short umbilical cord Small placenta Aplasia/Hypoplasia involving the skeletal musculature Choroid plexus cyst Bifid uterus Macrogyria Cutaneous photosensitivity


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